S7F (p.Ser7Phe) variant of COL6A2 (Collagen alpha-2(VI) chain)
S7F (p.Ser7Phe) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Bethlem myopathy 1A. The record also includes structural context.
S7F (p.Ser7Phe) variant details
- p.Ser7Phe
- NCI-TCGA Cosmic COSV5600
- cosmic curated COSV56000
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- UniProt: Uncertain significance
- Structural context available